A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Liu, Fan, van der Lijn, Fedde, Schurmann, Claudia, Zhu, Gu, Chakravarty, M. Mallar, Hysi, Pirro G., Wollstein, Andreas, Lao, Oscar, de Bruijne, Marleen, Ikram, M. Arfan, van der Lugt, Aad, Rivadeneira, Fernando, Uitterlinden, Andre G., Hofman, Albert, Niessen, Wiro J., Homuth, Georg, de Zubicaray, Greig, McMahon, Katie L., Thompson, Paul M., Daboul, Amro, Puls, Ralf, Hegenscheid, Katrin, Bevan, Liisa, Pausova, Zdenka, Medland, Sarah E., Montgomery, Grant W., Wright, Margaret J., Wicking, Carol A., Boehringer, Stefan, Spector, Timothy D., Paus, Tomas, Martin, Nicholas G., Biffar, Reiner and Kayser, Manfred for the International Visible Trait Genetics (VisiGen) Consortium (2012) A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans. PLoS Genetics, 8 9: e1002932.1-e1002932.13. doi:10.1371/journal.pgen.1002932

Author Liu, Fan
van der Lijn, Fedde
Schurmann, Claudia
Zhu, Gu
Chakravarty, M. Mallar
Hysi, Pirro G.
Wollstein, Andreas
Lao, Oscar
de Bruijne, Marleen
Ikram, M. Arfan
van der Lugt, Aad
Rivadeneira, Fernando
Uitterlinden, Andre G.
Hofman, Albert
Niessen, Wiro J.
Homuth, Georg
de Zubicaray, Greig
McMahon, Katie L.
Thompson, Paul M.
Daboul, Amro
Puls, Ralf
Hegenscheid, Katrin
Bevan, Liisa
Pausova, Zdenka
Medland, Sarah E.
Montgomery, Grant W.
Wright, Margaret J.
Wicking, Carol A.
Boehringer, Stefan
Spector, Timothy D.
Paus, Tomas
Martin, Nicholas G.
Biffar, Reiner
Kayser, Manfred for the International Visible Trait Genetics (VisiGen) Consortium
Total Author Count Override 34
Title A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7390
Publication date 2012-09-13
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1002932
Open Access Status DOI
Volume 8
Issue 9
Start page e1002932.1
End page e1002932.13
Total pages 13
Place of publication San Francisco, CA United States
Publisher Public Library of Science
Collection year 2013
Language eng
Formatted abstract
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore
conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape
features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and twodimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes,
suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and
the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported
GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA
variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify
more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.
Keyword Craniofacial morphology
Nuclear magnetic resonance imaging
Single Nucleotide Polymorphism
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

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Created: Fri, 16 Nov 2012, 14:26:30 EST by Susan Allen on behalf of Institute for Molecular Bioscience